Canonical Allele Identifier: PA2827589323
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 310435
ClinVar RCV Id: RCV000371902 RCV001202630 RCV003147446 RCV003920292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338055.1:p.Met597Ile
CA6426621
NM_001351126.2:c.1791G>A
CA383740941
NM_001351126.2:c.1791G>T
CA383740945
NM_001351126.2:c.1791G>C